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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MEGF9 Gene

protein-coding   GIFtS: 46
GCID: GC09M123363

multiple EGF-like-domains 9

(Previous names: EGF-like-domain, multiple 5 )
(Previous symbol: EGFL5)
 Explore 1 disease affiliated with
MEGF9 via our new
 Human Malady Compendium 
Biological research products
for MEGF9
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Multiple EGF-Like-Domains 91 2     Multiple Epidermal Growth Factor-Like Domains Protein 92
EGFL51 2 3 5     KIAA08183
EGF-Like-Domain, Multiple 51 2     EGF-Like Protein 53
Epidermal Growth Factor-Like Protein 52 3     Multiple EGF-Like Domains Protein 93

External Ids:    HGNC: 32341   Entrez Gene: 19552   Ensembl: ENSG000001067807   OMIM: 6042685   UniProtKB: Q9H1U43   

Export aliases for MEGF9 gene to outside databases

Previous GC identifers: GC09M122402 GC09M092980


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

  --

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  NT_008470.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MEGF9 gene promoter:
         AhR   p300   CBF-C   Arnt   AREB6   CBF-A   CBF-B   CP1C   CP1A   CBF(2)   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for MEGF9

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MEGF9


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q32-q33.3   Ensembl cytogenetic band:  9q33.2   HGNC cytogenetic band: 9q32-q33.3

MEGF9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MEGF9 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M123363:  view genomic region     (about GC identifiers)

Start:
123,363,091 bp from pter      End:
123,476,748 bp from pter
Size:
113,658 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MEGF9_HUMAN, Q9H1U4 (See protein sequence)
Recommended Name: Multiple epidermal growth factor-like domains protein 9 precursor  
Size: 602 amino acids; 62984 Da
Subcellular location: Membrane; Single-pass type I membrane protein (Potential)
Caution: It is uncertain whether Met-1 or Met-9 is the initiator
Sequence caution: Sequence=AAQ88736.1; Type=Miscellaneous discrepancy; Note=Intron retention;
Secondary accessions: B7Z315 O75098

Explore the universe of human proteins at neXtProt for MEGF9: NX_Q9H1U4

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H1U4

  • MEGF9 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001073966.2  
    ENSEMBL proteins: 
     ENSP00000363040   ENSP00000392666  

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    Uscn Proteins for MEGF9

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0016021integral to membrane IEA--


    MEGF9 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    MEGF9 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR002049 EGF_laminin
     IPR001368 TNFR/NGFR_Cys_rich_reg
     IPR013032 EGF-like_CS

    Graphical View of Domain Structure for InterPro Entry Q9H1U4

    ProtoNet protein and cluster: Q9H1U4

    1 Blocks protein family: IPB001368 TNFR/CD27/30/40/95 cysteine-rich region

    UniProtKB/Swiss-Prot: MEGF9_HUMAN, Q9H1U4
    Similarity: Contains 5 laminin EGF-like domains


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    miRNA
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    hsa-miR-323-3p hsa-miR-607 hsa-miR-3152-3p hsa-miR-520f hsa-miR-4272 hsa-miR-200a hsa-miR-485-3p hsa-miR-138-2*
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding NAS--


    MEGF9 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Megf9tm1Lex for MEGF9
         1 MGI phenotypic allele for Megf9 (no phenotypes)

    MEGF9 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MEGF9

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--


    MEGF9 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MEGF9
    Search CenterWatch for drugs/clinical trials and news about MEGF9 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MEGF9 gene: 
    NM_001080497.2  

    Unigene Cluster for MEGF9:

    Multiple EGF-like-domains 9
    Hs.494977  [show with all ESTs]
    Unigene Representative Sequence: NM_001080497
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000373930(uc022bms.1 uc004bkj.2 uc004bkk.4) ENST00000426959


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    8/104 QIAGEN miScript miRNA Assays for microRNAs that regulate MEGF9 (see all 104):
    hsa-miR-323-3p hsa-miR-607 hsa-miR-3152-3p hsa-miR-520f hsa-miR-4272 hsa-miR-200a hsa-miR-485-3p hsa-miR-138-2*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MEGF9 (see all 7)
    OriGene shRNA RFP: MEGF9
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MEGF9
    Clone
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    Additional cDNA sequence: 

    AB011542.1 AJ420444.1 AK295380.1 BC008313.1 BC016989.1 

    4 DOTS entries:

    DT.40289140  DT.443017  DT.97762536  DT.101963657 

    24/165 AceView cDNA sequences (see all 165):

    AI302757 AW090433 BM479460 BQ441783 BX094496 AI244758 T92590 BM669970 
    BU738292 CB155129 BF110421 BE465116 BC016989 AI023855 BF445580 AI700974 
    BM479774 BX496275 BF982842 BM764900 AI278963 BQ718056 CK299466 BC008313 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MEGF9 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCGAAATCCC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See MEGF9 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MEGF9

    SOURCE GeneReport for Unigene cluster: Hs.494977
        SABiosciences Custom PCR Arrays for MEGF9
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MEGF9

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for MEGF9 gene from 3/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves LOC1008581151 multiple epidermal growth factor-like domains protein more 68.15(n)
    70.5(a)
      100858115  XM_003642276.1  XP_003642324.1 
    lizard
    (Anolis carolinensis)
    Reptilia MEGF96
    --
    65(a)
    1 ↔ 1
    GL343398.1(748886-754672)
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkey-220k22.11 si:dkey-220k22.1 53.31(n)
    48.81(a)
      795920  XM_001336167.3  XP_001336203.2 


    ENSEMBL Gene Tree for MEGF9 (if available)
    TreeFam Gene Tree for MEGF9 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: MEGF9_HUMAN, Q9H1U4
    Polymorphism: The poly-Ala stretch (positions 24 to 31) may be polymorphic and varies from 6 to 8 Ala residues


    10/1796 NCBI SNPs in MEGF9 are shown (see all 1796    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs351202721,2
    C--93004894(+) AAAAA-/ATGAAG 1 -- int11Minor allele frequency- A:0.00NA 2
    rs352223951,2
    C--93101225(+) CTGTC-/TTTGCCG 1 -- int10--------
    rs1156960941,2
    C--93101226(+) TGTCTC/TTGCCG 1 -- int10--------
    rs120007291,2
    H--93101260(+) TGGAAA/GGGCAA 1 -- int10--------
    rs358437961,2
    F--93101363(+) CCAACC/ATCATC 1 -- int11Minor allele frequency- A:0.25NA 8
    rs791294301,2
    F,--93101399(+) ATGTCG/AGGCAT 1 -- int13Minor allele frequency- A:0.05CSA WA 122
    rs765642561,2
    --93101433(+) AAACCG/AGGGTC 1 -- int11Minor allele frequency- A:0.01EA 120
    rs1119432471,2
    F,--93101555(+) CCTTAT/CAGATG 1 -- int13Minor allele frequency- C:0.05CSA WA 122
    rs354129461,2
    C,--123362972(+) TAATAT/-ATTTT 1 -- int11Minor allele frequency- -:0.50NA 2
    rs1995028381,2
    C--123362972(+) TAATAA/TATTTT 1 -- int10--------

    HapMap Linkage Disequilibrium report for MEGF9 (123363091 - 123476748 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for MEGF9
         1 CNV: 7723
         1 Indel: 47640

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    MEGF9 for disorders           About GeneDecksing

    OMIM gene information: 604268    OMIM disorders: --

    1 disease for MEGF9:    About MalaCards
    tetralogy of fallot

    1 disease from the University of Copenhagen DISEASES database for MEGF9:
    Tetralogy of Fallot

    Export disorders for MEGF9 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MEGF9 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with MEGF9)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of high-molecular-weight proteins with multiple EGF- like motifs by motif-trap screening. (PubMed id 9693030)1, 2, 3 Nakayama M.... Ohara O. (1998)
    2. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
    3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    4. Genome-wide association of lipid-lowering response to statins in combined study populations. (PubMed id 20339536)1 Barber M.J....Krauss R.M. (2010)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    7. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (1996)
    8. MEGF9: a novel transmembrane protein with a strong and developmentally regulated expression in the nervous system. (PubMed id 16981854)9 Brandt-Bohne U....Koch M. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1955 HGNC: 3234 AceView: EGFL5 Ensembl:ENSG00000106780 euGenes: HUgn1955
    ECgene: MEGF9 H-InvDB: MEGF9

    (According to HUGE)
    About This Section
    HUGE: KIAA0818

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MEGF9 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MEGF9 gene:
    Search GeneIP for patents involving MEGF9

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
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    von Willebrand factor
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